Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

90427

Name

BMF

Synonymous

Bcl2 modifying factor;BMF;Bcl2 modifying factor

Definition

bcl-2-modifying factor

Position

15q14

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.47.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.181C>T; p.R61*; 15:40105906-40105906

 skinmalignant_melanomaSubstitution - Nonsense

c.301G>A; p.G101S; 15:40104332-40104332

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.314C>A; p.P105H; 15:40104319-40104319

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154C>T; p.L52F; 15:40105933-40105933

 skinmalignant_melanomaSubstitution - Missense

c.43T>C; p.F15L; 15:40106044-40106044

 breastcarcinomaSubstitution - Missense

c.404G>A; p.R135Q; 15:40104229-40104229

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.404G>A; p.R135Q; 15:40104229-40104229

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.144G>T; p.Q48H; 15:40105943-40105943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.363delC; p.E122fs*51; 15:40104270-40104270

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.65C>T; p.P22L; 15:40106022-40106022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 15:40106084-40106084

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.65C>T; p.P22L; 15:40106022-40106022

 large_intestine; coloncarcinomaSubstitution - Missense

c.65C>T; p.P22L; 15:40106022-40106022

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.528G>T; p.E176D; 15:40091814-40091814

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.453+2T>A; p.?; 15:40104178-40104178

 lungcarcinoma; adenocarcinomaUnknown

c.467A>G; p.Q156R; 15:40091875-40091875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.273A>T; p.E91D; 15:40105814-40105814

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.142C>T; p.Q48*; 15:40105945-40105945

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.14_15delAG; p.Q5fs*8; 15:40106072-40106073

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.24G>T; p.E8D; 15:40106063-40106063

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.69G>T; p.V23V; 15:40106018-40106018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.216T>C; p.T72T; 15:40105871-40105871

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.152delC; p.P51fs*38; 15:40105935-40105935

 ovarycarcinoma; clear_cell_carcinomaDeletion - Frameshift

c.73C>T; p.Q25*; 15:40106014-40106014

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.313_314delCC; p.P105fs*79; 15:40104319-40104320

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.313_314delCC; p.P105fs*79; 15:40104319-40104320

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.412C>T; p.Q138*; 15:40104221-40104221

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.261G>A; p.G87G; 15:40105826-40105826

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.386C>T; p.A129V; 15:40104247-40104247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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